@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_head
{
this:
np:hasAssertion
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_assertion
;
np:hasProvenance
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_assertion
a
np:Assertion
.
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_provenance
a
np:Provenance
.
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_assertion
{
miriam-gene:4110
a
ncit:C16612
.
lld:C0019069
a
ncit:C7057
.
dgn-gda:DGN0be0e2e33f4a5333e6a934eaab17a90c
sio:SIO_000628
miriam-gene:4110
,
lld:C0019069
;
a
sio:SIO_001121
.
}
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_provenance
{
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_assertion
dcterms:description
"[The copy number of several genes is affected by this rearrangement, with deletion of part of the Factor VIII gene (F8, causing hemophilia A) and the FUNDC2 gene, and duplication of the TMEM185A, HSFX1, MAGEA9, and MAGEA11 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:17683067
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP561266.RALt5E_ciYsMNi6VXv2qWHtiuCCX8YiRI2lg8blJ4UJCQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:38+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}